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Article

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.

Human molecular genetics - 15 Oct 2014

Poulter James A, Murillo Gina, Brookes Steven J, Smith Claire E L, Parry David A, Silva Sandra, Kirkham Jennifer, Inglehearn Chris F, Mighell Alan J

Abstract excerpt

Amelogenesis imperfecta (AI) describes a heterogeneous group of inherited dental enamel defects reflecting failure of normal amelogenesis. Ameloblastin (AMBN) is the second most abundant enamel matrix protein expressed during amelogenesis. The pivotal role of AMBN in amelogenesis has been confirmed experimentally using mouse models. However, no AMBN mutations have been associated with human AI. Using autozygosity...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24858907
DOI: 10.1093/hmg/ddu247
PMCID: PMC4168819

Genes

AMBN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.PMID 24858907Read ↗

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